ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.1990-9T>C

gnomAD frequency: 0.00001  dbSNP: rs756846181
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000464594 SCV000555989 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-12-30 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000579508 SCV000684789 likely benign Hereditary cancer-predisposing syndrome 2017-03-22 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004002033 SCV004832751 likely benign Lynch syndrome 2024-03-24 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.